Dariers Disease

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Emine Colgecen - One of the best experts on this subject based on the ideXlab platform.

  • Dariers Disease: Two Familial Case Reports
    Derman Medical Publishing, 2016
    Co-Authors: Emine Colgecen
    Abstract:

    Darier’s Disease (Darier-White Disease, keratosis follicularis) is a rare autosomal dominant Disease particularly involving the seborrheic areas and characterized by impaired keratinization. Herein, two cases of this rare Disease in a mother and her daughter, aged 47 and 28 years, are reported, together with clinical and histopathological findings

K Shima - One of the best experts on this subject based on the ideXlab platform.

T Aswathi - One of the best experts on this subject based on the ideXlab platform.

Theodora Mauro - One of the best experts on this subject based on the ideXlab platform.

  • Endoplasmic reticulum calcium, stress, and cell-to-cell adhesion
    2016
    Co-Authors: Theodora Mauro
    Abstract:

    Darier's Disease (DD) is caused by mutations in the endoplasmic reticulum (ER) Ca2+ ATPase ATP2A2 (protein SERCA2). Current treatment modalities are ineffective for many patients. This report shows that impaired SERCA2 function, both in DD keratinocytes and in normal keratinocytes treated with the SERCA2-inhibitor thapsigargin, depletes ER Ca2+ stores, leading to constitutive ER stress and increased sensitivity to ER stressors. ER stress, in turn, leads to abnormal cell-to-cell adhesion via impaired redistribution of desmoplakin, desmoglein 3, desmocollin 3 and E-cadherin to the plasma membrane. This report illustrates how ER Ca2+ depletion and the resulting ER stress are central to the pathogenesis of the Disease. Additionally, the authors introduce a possible new therapeutic agent, Miglustat. Dariers Disease DD, caused by mutations in the ER Ca2+ ATPase ATP2A2 (Sakuntabhai, et al., 1999), is an uncommon (1:30,000) blistering skin Disease. Patients with DD suffer from impaired cell-to-cell adhesion, defective keratinocyte differentiation, and non-physiologic keratinocyte apoptosis. Histologically, DD manifests with suprabasal clefting in the epidermis

Louise C O'halloran - One of the best experts on this subject based on the ideXlab platform.

  • Dariers Disease and pregnancy
    Dermatology Aspects, 2013
    Co-Authors: Julie A. Quinlivan, Louise C O'halloran
    Abstract:

    Abstract Darier's Disease, also known as keratosis follicularis or Darier-White Disease, is an autosomal dominant inherited condition. The Disease usually has its onset in the teenage years, meaning it co-exists with the years of